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1. Full Text Whole-genome sequence variation, population structure and demographic history of the Dutch population
by Francioli, Laurent C and Menelaou, Anoniki and Pulit, Sara L and van Dijk, Freerk and Palamara, Pier Francesco and Elbers, Clara C and Neerincx, Pieter B. T and Ye, Kai and Guryev, Victor and Kloosterman, Wigard P and Deelen, Patrick and Abdellaoui, Abdel and van Leeuwen, Elisabeth M and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Karssen, Lennart C and Kanterakis, Alexanos and Amin, Najaf and Hottenga, Jouke Jan and Lameijer, Eric-Wubbo and Kattenberg, Mathijs and Dijkstra, Martijn and Byelas, Heorhiy and van Setten, Jessica and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäc J and Renkens, Ivo and Marschall, Tobias and Schönhuth, Alexander and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Polak, Paz and Sohail, Mashaal and Vuzman, Dana and Hormozdiari, Fereydoun and van Enckevort, David and Mei, Hailiang and Koval, Vyacheslav and Moed, Matthijs H and van der Velde, K. Joeri and Rivadeneira, Fernando and Estrada, Karol and Medina-Gomez, Carolina and Isaacs, Aaron and McCarroll, Steven A and Beekman, Marian and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and Oostra, Ben and Uitterlinden, Ané G and Willemsen, Gonneke and Platteel, Mathieu and Veldink, Jan H and van den Berg, Leonard H and Pitts, Steven J and Potluri, Shobha and Sundar, Purnima and Cox, David R and Sunyaev, Shamil R and den Dunnen, Johan T and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and Pe'er, Itsik and Slagboom, P. Eline and van Duijn, Cornelia M and Boomsma, Dorret I and van Ommen, Gert-Jan B and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and LifeLines Cohort Study and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 818 - 825
Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be... 
GENETIC-VARIATION | IMPACT | HUMAN-DISEASE | EVOLUTION | DE-NOVO MUTATIONS | VARIANTS | RARE | EXOMES | HAPLOTYPE MAP | GENETICS & HEREDITY | COMMON | Haplotypes | European Continental Ancestry Group - genetics | Gene Frequency | Humans | Netherlands | Genetics, Population - methods | Gene Deletion | Alleles | Mutagenesis, Insertional | Polymorphism, Single Nucleotide | Genome, Human | Genome-Wide Association Study - methods | Sequence Analysis, DNA - methods | Usage | Single nucleotide polymorphisms | Research | Nucleotide sequencing | Methods | DNA sequencing | Studies | Industrial development | Genomics | Quality control | Genomes | Mitochondrial DNA | Deoxyribonucleic acid--DNA
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2. Full Text The Genome of the Netherlands: Design, and project goals
by Boomsma, Dorret and Wijmenga, Cisca and Slagboom, Eline and Swertz, Morris and Karssen, Lennart and Abdellaoui, Abdel and Ye, Kai and Guryev, Victor and Vermaat, Joost and Dijk, Freerk and Francioli, Laurent and Hottenga, Jouke Jan and Laros, Jeroen F and Li, Qibin and Li, Yingrui and Cao, Hongzhi and Chen, Ruoyan and Du, Yangchun and Li, Ning and Cao, Sherry and Setten, Jessica and Menelaou, Anoniki and Pulit, Sara and Hehir-Kwa, Jayne and Beekman, Marian and Elbers, Clara and Byelas, Heorhiy and Craen, Anton and Deelen, Patrick and Dijkstra, Martijn and Dunnen, Johan and Knijff, Peter and Houwing-Duistermaat, Jeanine and Koval, Vyacheslav and Estrada Gil, Karol and Hofman, Albert and Kanterakis, Alexanos and Enckevort, David and Mai, Hailiang and Kattenberg, Mathijs and Leeuwen, Elisa and Neerincx, Pieter B T and Oostra, Ben and Rivadeneira Ramirez, Fernando and Suchiman, Eka and Uitterlinden, Ané and Willemsen, Gonneke and Wolffenbuttel, Bruce and Wang, Jinxia and Bakker, Paul and Ommen, Gert and Duijn, Cornelia
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 221 - 227
textabstractWithin the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands... 
trio-design | population genetics | whole-genome sequence | SUSCEPTIBILITY VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RISK | HERITABILITY | TWIN | FAMILY | COMMON SNPS | DISEASE | GENETICS & HEREDITY | WIDE ASSOCIATION | MUTATIONS | Gene Frequency | Humans | Middle Aged | Phylogeography | Databases, Genetic | Male | Sequence Analysis, DNA | Genetic Variation | Young Adult | Netherlands | Aged, 80 and over | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Genome, Human | Haplotypes | Phenotypes | Nucleotide sequence | Principal components analysis | Genomes | Mitochondrial DNA | Genetic diversity | Birth | Epidemiology | Blood | Studies | Progeny | Population | Genetics | Diabetes | Mutation | Variation | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing
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3. Full Text Negative selection in humans and fruit flies involves synergistic epistasis
by Sohail, Mashaal and Vakhrusheva, Olga A and Sul, Jae Hoon and Pulit, Sara L and Francioli, Laurent C and van den Berg, Leonard H|info:eu-repo/dai/nl/288255216 and Veldink, Jan H|info:eu-repo/dai/nl/266575722 and de Bakker, Paul I W|info:eu-repo/dai/nl/342957082 and Bazykin, Georgii A and Konashov, Alexey S and Sunyaev, Shamil R and Alzheimers Dis Neuroimaging Initia and Genome Netherlands Consortium and Alzheimer’s Disease Neuroimaging Initiative and Genome of the Netherlands Consortium
Science, ISSN 0036-8075, 05/2017, Volume 356, Issue 6337, pp. 539 - 542
Negative selection against deleterious alleles produced by mutation influences within-population variation as the most pervasive form of natural selection.... 
POPULATION | RECOMBINATION | FITNESS | LOAD | MULTIDISCIPLINARY SCIENCES | SEX | EVOLUTIONARY ADVANTAGE | DELETERIOUS MUTATIONS | INSIGHTS | Animals | Genetic Fitness | Epistasis, Genetic | Humans | Alleles | Selection, Genetic | Mutation Rate | Genome, Insect | Mutation, Missense | Genome, Human | Drosophila melanogaster - genetics | Linkage Disequilibrium | Biological research | Fruit-flies | Human beings | Genetic aspects | Research | Man | Natural history | Mutation (Biology) | Natural selection | Genetic epistasis | Biology, Experimental | Fruit flies | Genomes | Populations | Mutation | Fitness | Linkages | Mutations | Data sets | Genetics | Flies
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4. Full Text Disease variants alter transcription factor levels and methylation of their binding sites
by Bonder, Marc Jan and Luijk, Rene and Pital-Zhernakova, Daria and Moed, Matthijs and Deelen, Patrick and Vermaat, Martijn and van Iterson, Maarten and van Dijk, Freerk and van Galen, Michiel and Bot, Jan and Slieker, Roderick C and Jhamai, P. Mila and Verbiest, Michael and Suchiman, H. Eka D and Verkerk, Marijn and van der Breggen, Ruud and van Rooij, Jeroen and Lakenberg, Nico and Arinarto, Wibowo and Kielbasa, Szymon M and Jonkers, Iris and van 't Hof, Peter and Nooren, Irene and Beekman, Marian and Deelen, Joris and van Heemst, Diana and Zhernakova, Alexana and Tigchelaar, Ettje F and Swertz, Morris A and Hofman, Albert and Uitterlinden, Ane G and Pool, Rene and van Dongen, Jenny and Hottenga, Jouke J and Stehouwer, Coen D. A and van der Kallen, Carla J. H and Schalkwijk, Casper G and van den Berg, Leonard H and van Zwet, Erik W and Mei, Hailiang and Li, Yang and Lemire, Mathieu and Hudson, Thomas J and Slagboom, P. Eline and Wijmenga, Cisca and Veldink, Jan H and van Greevenbroek, Marleen M. J and van Duijn, Cornelia M and Boomsma, Dorret I and Isaacs, Aaron and Jansen, Rick and van Meurs, Joyce B. J and t Hoen, Peter A. C and Franke, Lude and Heijmans, Bastiaan T and BIOS Consortium and the BIOS Consortium
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 131 - 138
Most disease-associated genetic variants are noncoding, making it challenging to design experiments to understand their functional consequences(1,2).... 
DNA | GENETICS & HEREDITY | GENE-EXPRESSION | SUSCEPTIBILITY LOCI | ARCHITECTURE | PROTEINS | GENOME-WIDE ASSOCIATION | FAMILY | Genome-Wide Association Study | Disease - genetics | Humans | Middle Aged | Gene Expression Regulation | Male | Transcription Factors - metabolism | DNA Methylation | Phenotype | Polymorphism, Single Nucleotide - genetics | Female | Genome, Human | Quantitative Trait Loci | Binding Sites | Cohort Studies | Transcription factors | Methylation | Analysis | Binding sites (Biochemistry) | Studies | Consortia | DNA methylation | Genetic research | Infrastructure | Genomes | Gene expression | Blood | Deoxyribonucleic acid--DNA
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5. Full Text Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'
by Deelen, Patrick and Menelaou, Anoniki and van Leeuwen, Elisabeth M and Kanterakis, Alexanos and van Dijk, Freerk and Medina-Gomez, Carolina and Francioli, Laurent C and Hottenga, Jouke Jan and Karssen, Lennart C and Estrada, Karol and Kreiner-Møller, Eskil and Rivadeneira, Fernando and van Setten, Jessica and Gutierrez-Achury, Javier and Westra, Harm-Jan and Franke, Lude and van Enckevort, David and Dijkstra, Martijn and Byelas, Heorhiy and van Duijn, Cornelia M and de Bakker, Paul I. W and Wijmenga, Cisca and Swertz, Morris A and Neerincx, Pieter B. T and Pulit, Sara L and Elbers, Clara C and Palamara, Pier Francesco and Pe'er, Itsik and Abdellaoui, Abdel and Kloosterman, Wigard P and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Veldink, Jan H and van den Berg, Leonard H and den Dunnen, Johan T and Amin, Najaf and van der Velde, K. Joeri and Kattenberg, Mathijs and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäuc J and Mei, Hailiang and Koval, Vyacheslav and Ye, Kai and Lameijer, Eric-Wubbo and Moed, Matthijs H and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Sunyaev, Shamil R and Sohail, Mashaal and Hormozdiari, Fereydoun and Marschall, Tobias and Schönhuth, Alexander and Guryev, Victor and Slagboom, P. Eline and Beekman, Marian B and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and van Duijn, Cornelia and Boomsma, Dorret I and Willemsen, Gonneke and Wolffenbuttel, Bruce H and Platteel, Mathieu and Pitts, Steven J and Potluri, Shobha and Cox, David R and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and van Ommen, Gertjan B and Genome Netherlands Consortium and Genome of Netherlands Consortium and Genome of the Netherlands Consortium
European journal of human genetics, ISSN 1018-4813, 2014, Volume 22, Issue 11, pp. 1321 - 1326
Although genome-wide association studies (GWAS) have identified many common variants associated with complex traits, low-frequency and rare variants have not... 
rare variants | reference panel | GWAS | reference sets | genotype imputation | GoNL | ARRAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | POWER | LOCI | DISEASE | GENETICS & HEREDITY | COMMON | ASSOCIATION | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Gene Frequency | Humans | Genotype | United Kingdom | Genotyping Techniques | Case-Control Studies | Netherlands | Phenotype | Denmark | Italy | Polymorphism, Single Nucleotide | Genome, Human | Principal Component Analysis | Cluster Analysis | Haplotypes | Genomics | Licenses | Principal components analysis | Genomes | Epidemiology | Consortia | Hospitals | Quality | Population | Genetics | Bioinformatics | Genotypes
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6. Full Text Identification of context-dependent expression quantitative trait loci in whole blood
by Pital-Zhernakova, Daria and Deelen, Patrick and Vermaat, Martijn and van Iterson, Maarten and van Galen, Michiel and Arinarto, Wibowo and van 't Hof, Peter and Mei, Hailiang and van Dijk, Freerk and Westra, Harm-Jan and Bonder, Marc Jan and van Rooij, Jeroen and Verkerk, Marijn and Jhamai, P. Mila and Moed, Matthijs and Kielbasa, Szymon M and Bot, Jan and Nooren, Irene and Pool, Rene and van Dongen, Jenny and Hottenga, Jouke J and Stehouwer, Coen D. A and van der Kallen, Carla J. H and Schalkwijk, Casper G and Zhernakova, Alexana and Li, Yang and Tigchelaar, Ettje F and de Klein, Niek and Beekman, Marian and Deelen, Joris and van Heemst, Diana and van den Berg, Leonard H and Hofman, Albert and Uitterlinden, Ane G and van Greevenbroek, Marleen M. J and Veldink, Jan H and Boomsma, Dorret I and van Duijn, Cornelia M and Wijmenga, Cisca and Slagboom, P. Eline and Swertz, Morris A and Isaacs, Aaron and van Meurs, Joyce B. J and Jansen, Rick and Heijmans, Bastiaan T and t Hoen, Peter A. C and Franke, Lude
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 139 - 145
Genetic risk factors often localize to noncoding regions of the genome with unknown effects on disease etiology1,2. Expression quantitative trait loci (eQTLs)... 
OBESITY | VARIANTS | GENETICS & HEREDITY | GENE-EXPRESSION | ENRICHMENT | CELL | ASSOCIATION | EQTLS | Genetic Predisposition to Disease | Humans | Middle Aged | RNA, Messenger - genetics | Male | Gene Expression Profiling | Regulatory Sequences, Nucleic Acid - genetics | RNA, Messenger - blood | Blood Proteins - genetics | Polymorphism, Single Nucleotide - genetics | Female | High-Throughput Nucleotide Sequencing | Cell Lineage - genetics | Cohort Studies | Quantitative Trait Loci - genetics | Quantitative trait loci | Gene expression | Analysis | Blood | Multiple sclerosis | Disease | Research & development--R&D | Genomics | Neutrophils | Genomes | Grants | Inflammatory bowel disease | Consortia | Hypotheses | Rheumatoid arthritis | Infrastructure | Research centers | Binding sites
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7. Full Text Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
by Anvar, Seyed Yahya and Allard, Guy and Tseng, Elizabeth and Sheynkman, Gloria M and de Klerk, Eleonora and Vermaat, Martijn and Yin, Raymund H and Johansson, Hans E and Ariyurek, Yavuz and den Dunnen, Johan T and Turner, Stephen W and 't Hoen, Peter A.C
Genome Biology, ISSN 1474-7596, 03/2018, Volume 19, Issue 1, pp. 1 - 18
Background: The multifaceted control of gene expression requires tight coordination of regulatory mechanisms at transcriptional and post-transcriptional level.... 
SEQ DATA | NUCLEAR | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | STABILITY | COMPLEXITY | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | POLYADENYLATION | ADHERENT CELLS | ISOFORM | BINDING PROTEIN HUR | IDENTIFICATION | Alternative splicing | Post-transcription | mRNA processing | Genes | Liver | Breast cancer | Genomes | Gene expression | Peptide mapping | Datasets | Proteins | Polyadenylation | Proteomics | Open reading frames | Transcription initiation | Bioinformatics
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8. Full Text Late Release of Circulating Endothelial Cells and Endothelial Progenitor Cells after Chemotherapy Predicts Response and Survival in Cancer Patients
by Roodhart, Jeanine M and Langenberg, Marlies H and Vermaat, Joost S and Lolkema, Martijn P and Baars, Arnold and Giles, Rachel H and Witteveen, Els O and Voest, Emile E
Neoplasia, ISSN 1476-5586, 01/2010, Volume 12, Issue 1, pp. 87 - 94
We and others have previously demonstrated that the acute release of progenitor cells in response to chemotherapy actually reduces the efficacy of the... 
BREAST-CANCER | ANTIANGIOGENIC ACTIVITY | RECTAL-CANCER | INDUCED MOBILIZATION | ONCOLOGY | BONE-MARROW | BLOOD-VESSELS | TUMOR ANGIOGENESIS | SURROGATE MARKER | METRONOMIC CHEMOTHERAPY | CLINICAL-SIGNIFICANCE | Peptides - blood | Prognosis | Cell Count | Humans | Middle Aged | Male | Antineoplastic Agents - therapeutic use | Stem Cells - cytology | Stem Cells - metabolism | Flow Cytometry | Neoplasms - blood | Time Factors | Aged, 80 and over | Adult | Female | Enzyme-Linked Immunosorbent Assay | Endothelial Cells - metabolism | Platelet Endothelial Cell Adhesion Molecule-1 - blood | Vascular Endothelial Growth Factor A - blood | Treatment Outcome | Glycoproteins - blood | AC133 Antigen | Neoplasms - drug therapy | Regression Analysis | Antigens, CD - blood | Endothelial Cells - cytology | Fibroblast Growth Factors - blood | Chemokine CXCL12 - blood | Survival Analysis | Stem Cells - drug effects | Aged | Neoplasms - pathology | Endothelial Cells - drug effects
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9. Full Text A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
by Hehir-Kwa, Jayne Y and Marschall, Tobias and Kloosterman, Wigard P and Francioli, Laurent C and Baaijens, Jasmijn A and Dijkstra, Louis J and Abdellaoui, Abdel and Koval, Vyacheslav and Thung, Djie Tjwan and Wardenaar, Rene and Renkens, Ivo and Coe, Bradley P and Deelen, Patrick and de Ligt, Joep and Lameijer, Eric-Wubbo and van Dijk, Freerk and Hormozdiari, Fereydoun and Uitterlinden, Ane G and van Duijn, Cornelia M and Eichler, Evan E and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and van Ommen, Gert-Jan B and Slagboom, P. Eline and Boomsma, Dorret I and Schonhuth, Alexander and Ye, Kai and Guryev, Victor and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature Communications, ISSN 2041-1723, 10/2016, Volume 7, Issue 1, p. 12989
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the... 
IMPUTATION | IMPACT | DATABASE | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | GENETIC ARCHITECTURE | COPY NUMBER VARIATION | DELETION | Haplotypes | Genomics | Humans | Computational Biology | Genotype | Sequence Analysis, DNA | INDEL Mutation | Linkage Disequilibrium | Chromosomes - ultrastructure | Genomic Structural Variation | Netherlands | Algorithms | Sequence Analysis, RNA | Gene Deletion | Polymerase Chain Reaction | Polymorphism, Single Nucleotide | Software | Genome, Human | RNA - metabolism
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10. Full Text A SNP panel for identification of DNA and RNA specimens
by Yousefi, Soheil and Abbassi-Daloii, Tooba and Kraaijenbrink, Thirsa and Vermaat, Martijn and Mei, Hailiang and van 't Hof, Peter and van Iterson, Maarten and Zhernakova, Daria V and Claringbould, Annique and Franke, Lude and 't Hart, Leen M and Slieker, Roderick C and van der Heijden, Amber and de Knijff, Peter and 't Hoen, Peter A.C and Jansen, R and van Meurs, J.B and Heijmans, B.T and Boomsma, D.I and van Dongen, J and Hottenga, J.J and Slagboom, P.E and Suchiman, H.E.D and van Zwet, E.W and Pool, R and van Greevenbroek, M.M and Stehouwer, C.D and van der Kallen, C.J and Schalkwijk, C.G and Wijmenga, C and Zhernakova, A and Tigchelaar, E.F and Beekman, M and Deelen, J and van Heemst, D and Veldink, J.H and van den Berg, L.H and van Duijn, C.M and Hofman, B.A and Uitterlinden, A.G and Jhamai, P.M and Verbiest, M and Verkerk, M and van der Breggen, R and van Rooij, J and Lakenberg, N and Bot, J and Van't Hof, P and Deelen, P and Nooren, I and Moed, M and Vermaat, Martijn and Bonder, M.J and van Dijk, F and van Galen, M and Arindrarto, W and Kielbasa, S.M and Swertz, M.A and Isaacs, A and BIOS Consortium and BIOS consortium
BMC Genomics, ISSN 1471-2164, 01/2018, Volume 19, Issue 1, pp. 90 - 12
Background: SNP panels that uniquely identify an individual are useful for genetic and forensic research. Previously recommended SNP panels are based on DNA... 
Sample tracking | Biobanking | Forensics | Genetic variation | Mix up samples | METHYLATION | FORENSIC IDENTIFICATION | MARKERS | VALIDATION | POPULATIONS | INDIVIDUAL IDENTIFICATION | MESSENGER-RNA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MULTIPLEX | CODIS CORE LOCI | BLOOD | Genetics, Population | Genetic Testing | RNA - analysis | DNA Fingerprinting | Gene Frequency | Humans | Genotype | Linkage Disequilibrium | RNA - genetics | DNA - genetics | Patient Identification Systems - methods | Ethnic Groups - genetics | DNA - analysis | Individuality | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Research | Single nucleotide polymorphisms | RNA | DNA | Analysis | Diagnostic specimens
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